Canonical Allele Identifier: CA1190277238

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658089491

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679477_114679480dup , CM000663.2:g.114679477_114679480dup	GRCh38
NC_000001.10:g.115222098_115222101dup , CM000663.1:g.115222098_115222101dup	GRCh37
NC_000001.9:g.115023621_115023624dup	NCBI36
NG_008012.1:g.21076_21079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.885+99_885+102dup	ENSP00000358551.4:n.885+99_885+102dup
ENST00000520113.7:c.897+99_897+102dup MANE Select	ENSP00000430075.3:n.897+99_897+102dup
ENST00000637080.1:c.680+99_680+102dup	ENSP00000489753.1:n.680+99_680+102dup
ENST00000639077.1:n.562+99_562+102dup
ENST00000369538.3:c.984+99_984+102dup	ENSP00000358551.3:n.984+99_984+102dup
ENST00000520113.6:c.996+99_996+102dup	ENSP00000430075.2:n.996+99_996+102dup
NM_000036.2:c.996+99_996+102dup	NP_000027.2:n.996+99_996+102dup
NM_001172626.1:c.984+99_984+102dup	NP_001166097.1:n.984+99_984+102dup
NM_000036.3:c.897+99_897+102dup MANE Select	NP_000027.3:n.897+99_897+102dup
NM_001172626.2:c.885+99_885+102dup	NP_001166097.2:n.885+99_885+102dup